This rare disorder was first described by a German ophthalmologist, August von Rothmund, Jr., in 1868 and later by Matthew S. Thomson, an English dermatologist, in 1936.
Skin changes are an important component of this disorder but the skin may be normal at birth. Within 6 months, however, a typical rash develops with blistering and swelling. Gradually, a pattern of pigment changes appear with some areas excessively pigmented and other areas underpigmented. Small web-like patterns of blood vessels can be seen while the skin is some areas is excessively thin. The soles of the feet may be thickened. Bone growth is delayed and most patients are short in stature. Some bones are often missing, particularly in the upper limbs. Cataracts can be present and usually appear soon after birth or sometime in the first decade. Patients are susceptible to malignancies, particularly of bone and skin. The teeth are often abnormal with some missing and others small. Hair on the scalp, eyelashes, and eyebrows may be sparse or missing. Some infants have gastrointestinal problems requiring tube feeding.
This is an autosomal recessive disorder in which the normal carrier parents each have to give a mutant gene to their offspring before the disease appears.
The diagnosis can be made by a pediatrician or a dermatologist but generally it requires a multidisciplinary approach by multiple specialists. The clinical features can be highly variable and not all are present in every patient. The skin changes are the most characteristic. Because of the increased risk of bone and skin cancers, patients should be monitored throughout life and excessive sun exposure should be avoided. Cataracts that cause significant visual problems can be surgically removed.